Wang J - Search Results

1

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.

2

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Wang J, et al. Mol Genet Metab. 2012 Jun;106(2):221-30. doi: 10.1016/j.ymgme.2012.03.005. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22494545

3

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.

Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Cui H, et al. Among authors: wang g, wang j. Genet Med. 2013 May;15(5):388-94. doi: 10.1038/gim.2012.144. Epub 2013 Jan 3. Genet Med. 2013. PMID: 23288206 Free article.

4

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Chanprasert S, et al. Among authors: wang j. Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23932787

5

Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.

Palculict ME, Zhang VW, Wong LJ, Wang J. Palculict ME, et al. Among authors: wang j. Methods Mol Biol. 2016;1351:3-17. doi: 10.1007/978-1-4939-3040-1_1. Methods Mol Biol. 2016. PMID: 26530670

6

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ. Wang J, et al. Mol Genet Metab. 2009 Feb;96(2):59-65. doi: 10.1016/j.ymgme.2008.10.006. Epub 2008 Dec 4. Mol Genet Metab. 2009. PMID: 19062322

7

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Schaaf CP, et al. Among authors: wang j. Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21636302

8

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Tang S, et al. Among authors: wang g, wang j. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

9

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. Brautbar A, et al. Among authors: wang j. Mol Genet Metab. 2008 Aug;94(4):485-490. doi: 10.1016/j.ymgme.2008.04.004. Epub 2008 May 20. Mol Genet Metab. 2008. PMID: 18495510

10

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ. Wang J, et al. Genet Med. 2012 Jun;14(6):620-6. doi: 10.1038/gim.2012.4. Epub 2012 Mar 8. Genet Med. 2012. PMID: 22402757 Free article.

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